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rs1057517366

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517366(-;-)
Make rs1057517366(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23337655
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517366
dbSNP (old)rs1057517366
ClinGenrs1057517366
ebirs1057517366
HLIrs1057517366
Exacrs1057517366
Gnomadrs1057517366
Varsomers1057517366
Maprs1057517366
PheGenIrs1057517366
Biobankrs1057517366
1000 genomesrs1057517366
hgdprs1057517366
ensemblrs1057517366
gopubmedrs1057517366
geneviewrs1057517366
scholarrs1057517366
googlers1057517366
pharmgkbrs1057517366
gwascentralrs1057517366
openSNPrs1057517366
23andMers1057517366
23andMe allrs1057517366
SNP Nexus

SNPshotrs1057517366
SNPdbers1057517366
MSV3drs1057517366
GWAS Ctlgrs1057517366
Max Magnitude0
ClinVar
Risk rs1057517366(-;-)
Alt rs1057517366(-;-)
Reference Rs1057517366(A;A)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23911794delT
CLNSRC
CLNACC RCV000411355.1,